De Novo SMARCC2 Variant in a Chinese Woman with Coffin-Siris Syndrome 8: a Case Report with Mild Intellectual Disability and Endocrinopathy
AbstractCoffin-Siris syndrome (CSS) is a neurodevelopmental disorder characterized by cognitive disability, coarse facial features, hypertrichosis, and somatic dysmorphic features. It is caused by mutations in the BAF-complex orSOX gene. Here, a Chinese woman presenting with neurodevelopmental delay, mild intellectual disability, speech delay, dysmorphic features, obesity, scoliosis, hypotonia, seizures, skin problems, hypokalemia, and endocrine dysfunction is described. Whole exome sequencing (WES) identified a heterozygous missense variant, c.2074G > C (p. Ala692Pro), in theSMARCC2 gene of the proband. Affecting...
Source: Journal of Molecular Neuroscience - May 10, 2022 Category: Neuroscience Source Type: research
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
We report a series of seven patients with ID and de novo pathogenic KCNH1 variants identified by whole-exome sequencing or an epilepsy gene panel in whom the diagnosis of TBS/ZLS had not been first considered. Four of these variants, p.(Thr294Met), p.(Ala492Asp), p.(Thr493Asn) and p.(Gly496Arg), were located in the transmembrane domains S3 and S6 of Kv10.1 and one, p.(Arg693Gln), in its C-terminal cyclic nucleotide-binding homology domain (CNBHD). Clinical reappraisal by the referring clinical geneticists confirmed the absence of the distinctive gingival and nail features of TBS/ZLS.
Our study expands the phenotypical spec...
Source: Journal of Medical Genetics - April 22, 2022 Category: Genetics & Stem Cells Authors: Aubert Mucca, M., Patat, O., Whalen, S., Arnaud, L., Barcia, G., Buratti, J., Cogne, B., Doummar, D., Karsenty, C., Kenis, S., Leguern, E., Lesca, G., Nava, C., Nizon, M., Piton, A., Valence, S., Villard, L., Weckhuysen, S., Keren, B., Mignot, C. Tags: Phenotypes Source Type: research
Case Report: Loss-of-Function ABCC9 Genetic Variant Associated With Ventricular Fibrillation
Genetic variants in the ABCC9 gene, encoding the SUR2 auxiliary subunit from KATP channels, were previously linked with various inherited diseases. This wide range of congenital disorders includes multisystem and cardiovascular pathologies. The gain-of-function mutations result in Cantu syndrome, acromegaloid facial appearance, hypertrichosis, and acromegaloid facial features. The loss-of-function mutations in the ABCC9 gene were associated with the Brugada syndrome, early repolarization syndrome, and dilated cardiomyopathy. Here, we reported a patient with a loss-of-function variant in the ABCC9 gene, identified by target...
Source: Frontiers in Genetics - April 13, 2022 Category: Genetics & Stem Cells Source Type: research
Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the < b > < i > ARID1B < /i > < /b > Gene in a Girl with Coffin-Siris Syndrome
We report a case of a 12-year-5-month-old girl with the clinical features of CSS, severe scoliosis, and epilepsy. Growth hormone deficiency was diagnosed at the age of 9 years. Recombinant human growth hormone (rhGH) treatment was started that resulted in a significant improvement of the growth velocity up to 5.4 cm/year (#x3e;90-97th centile). Next-generation sequencing identified a mutation in theARID1B gene.Discusion: Despite its phenotypic heterogeneity, key features of CSS have become clearer and along with molecular diagnosis, a further global approach to improve the care of these individuals is enabled. Appropriate ...
Source: Molecular Syndromology - April 8, 2022 Category: Molecular Biology Source Type: research
Improvement of Unilateral Breast Hypoplasia With Oral Spironolactone in a Patient With Becker Nevus Syndrome
J Drugs Dermatol. 2022 Apr 1;21(4):425-426. doi: 10.36849/JDD.5579.ABSTRACTBecker nevus (BN) is a benign cutaneous smooth muscle hamartoma that presents with a hyperpigmented patch or plaque with or without hypertrichosis.1 BN may be associated with ipsilateral breast hypoplasia or other musculoskeletal abnormalities, an association which has been termed Becker nevus syndrome (BNS).PMID:35389596 | DOI:10.36849/JDD.5579 (Source: Journal of Drugs in Dermatology)
Source: Journal of Drugs in Dermatology - April 7, 2022 Category: Dermatology Authors: Li-Wei Chang Viktoryia Kazlouskaya Corey Georgesen Martha Matsumoto Jonhan Ho Jaroslaw Jedrych Arivarasan Karunamurthy Jennifer Picarsic Audrey Woerner Robin Gehris Source Type: research
